Results 71 to 80 of about 5,781 (202)

Molecular mechanisms connecting genotype and phenotype in Tbx1 deficiency [PDF]

, 2012
Background: The 22q11 deletion syndrome (22q11DS), also known as DiGeorge Syndrome, affects ~1/5000 live born children. Congenital heart defects (typically outflow tract and interrupted aortic arch) are present in 75% of individuals with 22q11DS and are ...
Mesmaeker, Julie Anne Laurence Nathalie De, De Mesmaeker, Julie Anne Laurence Nathalie   +1 more
core   +1 more source

Tbx1 is required for second heart field proliferation in zebrafish [PDF]

Developmental Dynamics, 2013
Background: The mammalian outflow tract (OFT) and primitive right ventricle arise by accretion of newly differentiated cells to the arterial pole of the heart tube from multi‐potent progenitor cells of the second heart field (SHF). While mounting evidence suggests that the genetic pathways regulating SHF development are highly conserved in zebrafish ...
Kathleen, Nevis, Pablo, Obregon, Conor, Walsh, Burcu, Guner-Ataman, C Geoffrey, Burns, Caroline E, Burns   +5 more
openaire   +2 more sources

Supraclavicular brown adipocytes originate from Tbx1+ myoprogenitors.

PLoS Biology, 2023
Brown adipose tissue (BAT) dissipates energy as heat, contributing to temperature control, energy expenditure, and systemic homeostasis. In adult humans, BAT mainly exists in supraclavicular areas and its prevalence is associated with cardiometabolic ...
Zan Huang, Chenxin Gu, Zengdi Zhang, Rini Arianti, Aneesh Swaminathan, Kevin Tran, Alex Battist, Endre Kristóf, Hai-Bin Ruan   +8 more
doaj   +1 more source

Mutation Analysis of TBX1 in Children with Conotruncal Heart Anomalies [PDF]

The Indian Journal of Pediatrics, 2015
To the Editor: Conotruncal heart anomalies (CTA) are structural malformations involving the outflow tract. While the exact incidence of CTA in India is not known, it remains the most common type of structural birth defect with a major impact on pediatric morbidity and mortality.
Teena, Koshy, Vettriselvi, Venkatesan, Kalpana, Gowrishankar, Venkatachalam, Perumal, Shruthi, Mohan, Solomon Franklin Durairaj, Paul   +5 more
openaire   +2 more sources

A Mechanistic Review of Environmental Stressor to Decode Their Effect on Congenital Malformations: A Developmental Toxicity

Journal of Biochemical and Molecular Toxicology, Volume 40, Issue 8, August 2026.
Environmental toxicants may disrupt developmental pathways via strong molecular docking interactions with hub FGF proteins (FGF9 and FGF4) like dibenzo‐p‐dioxin (−7.2 kcal/mol) at the ASN146 residue of FGF9, driving congenital malformations as revealed by PPI networks and toxicity profiling.
Adarsh Kumar Shukla, Rashmi Mahajan, Anuj Kumar Tyagi, Kamendra Swaroop   +3 more
wiley   +1 more source

Tbx2a is required for specification of endodermal pouches during development of the pharyngeal arches. [PDF]

PLoS ONE, 2013
Tbx2 is a member of the T-box family of transcription factors essential for embryo- and organogenesis. A deficiency in the zebrafish paralogue tbx2a causes abnormalities of the pharyngeal arches in a p53-independent manner.
Hang Nguyen Thi Thu, Steven Fong Haw Tien, Siau Lin Loh, Jimmy So Bok Yan, Vladimir Korzh   +4 more
doaj   +1 more source

Increased Prevalence of Rare Copy Number Variants in Australian Children With Fetal Alcohol Spectrum Disorder: Experience in a State‐Wide Diagnostic Service

Alcohol, Clinical and Experimental Research, Volume 50, Issue 8, August 2026.
Of 175 Australian children with fetal alcohol spectrum disorder (FASD), 90% had genetic testing, and of those, 24% had a rare copy number variant (CNV). Genetic testing supports the FASD diagnostic process and may reveal additional diagnoses or sources of genetic vulnerability to FASD.
Suzy Byrnes, Felicity Collins, Elizabeth Elliott   +2 more
wiley   +1 more source

Tbx1 requires Baf60a to regulate target genes.

, 2012
P19Cl6 cells were transfected with empty vector or Tbx1-expression vector (Tbx1-3HA) and an anti-Baf60a siRNA or control siRNA. The western blot shown on the top panel shows the efficiency of the knock-down experiment.
Li Chen (5749), Rosa Ferrentino (177859), Stefania Martucciello (177865), Elizabeth A. Illingworth (177870), Antonio Baldini (177873), Filomena Gabriella Fulcoli (177854)   +5 more
core   +1 more source

Enamel-free teeth: Tbx1 deletion affects amelogenesis in rodent incisors [PDF]

, 2009
TBX1 is a principal candidate gene for DiGeorge syndrome, a developmental anomaly that affects the heart, thymus, parathyroid, face, and teeth. A mouse model carrying a deletion in a functional region of the Tbx1 gene has been extensively used to study ...
Bradman, M, Luder, H U, Bradman, Matthew, Bluteau, Gilles, Tucker, A S, Tucker, Abigail S., Zoupa, M, Bluteau, G, Catón, J, Catón, Javier, Zoupa, Maria, Mitsiadis, Thimios A., Tucker, Abigail S.; id_orcid, Luder, Hans-Ulrich, Klein, Ophir, Klein, O, Mitsiadis, T A   +16 more
core   +1 more source

Screening for Mutations in the TBX1 Gene on Chromosome 22q11.2 in Schizophrenia [PDF]

Genes, 2016
A higher-than-expected frequency of schizophrenia in patients with 22q11.2 deletion syndrome suggests that chromosome 22q11.2 harbors the responsive genes related to the pathophysiology of schizophrenia. The TBX1 gene, which maps to the region on chromosome 22q11.2, plays a vital role in neuronal functions.
Lieh-Yung Ping, Yang-An Chuang, Shih-Hsin Hsu, Hsin-Yao Tsai, Min-Chih Cheng   +4 more
openaire   +2 more sources